PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

BACKGROUND: The role of epigenetics in inborn errors of metabolism (IEMs) is poorly investigated. Epigenetic changes can contribute to clinical heterogeneity of affected patients but could also be underestimated determining factors in the occurrence of IEMs. An epigenetic cause of IEMs has been rece...

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Veröffentlicht in:Clin Epigenetics
Hauptverfasser: Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, la Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2021
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Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8254308/
https://ncbi.nlm.nih.gov/pubmed/34215320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-021-01117-2
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